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듀센형근이영양증 유전자의 결실 돌연변이 검출을 위한 Dual Priming Oligonucleotide 다중 PCR법의 평가

Other Titles
 Evaluation of Multiplex PCR Assay Using Dual Priming Oligonucleotide System for Detection Mutation in the Duchenne Muscular Dystrophy Gene 
Authors
 박윤희  ;  김주원  ;  최종락  ;  송재우  ;  정종신  ;  이경아 
Citation
 KOREAN JOURNAL OF LABORATORY MEDICINE , Vol.28(5) : 386-391, 2008 
Journal Title
 KOREAN JOURNAL OF LABORATORY MEDICINE 
ISSN
 1598-6535 
Issue Date
2008
MeSH
DNA Mutational Analysis* ; DNA Primers ; Dystrophin/genetics* ; Female ; Gene Deletion ; Genetic Testing ; Humans ; Male ; Muscular Dystrophy, Duchenne/diagnosis* ; Muscular Dystrophy, Duchenne/genetics ; Nucleic Acid Amplification Techniques ; Oligonucleotide Probes ; Polymerase Chain Reaction/methods* ; Reagent Kits, Diagnostic ; Reproducibility of Results
Keywords
DMD gene ; Deletion ; Multiplex PCR ; Dual priming oligonucleotide PCR ; Multiplex
Abstract
BACKGROUND: Exon deletions of Duchenne muscular dystrophy (DMD) gene account for most of the alterations found in DMD and Becker muscular dystrophy (BMD). This study was to evaluate the usefulness of dual priming oligonucleotide multiplex PCR (DPO PCR) in detection of exon deletions of DMD gene. METHODS: Thirty-seven DMD or BMD patients who had known exon deletions detected by conventional multiplex PCR (conventional PCR) and nine control subjects were enrolled in this study. When a discrepancy was shown between the results of conventional PCR and DPO PCR, the multiplex ligation-dependent probe amplification (MLPA) technique was performed as a confirmation test. RESULTS: The same deletions previously identified by conventional PCR in 32 out of 37 subjects were also detected by DPO PCR. For the five subjects (13.5%) showing discrepant results between the conventional PCR and DPO PCR, MLPA was performed and its results were found to correlate better with those of DPO PCR. The discrepancies were due to false positive or false negative results of the conventional PCR. CONCLUSIONS: DPO PCR shows a high agreement of results with the conventional PCR and is considered an adequate method to be used as a primary genetic test for the diagnosis of DMD. Because of an improved accuracy, especially for determining the boundaries of DMD gene deletions, DPO PCR can be very useful as a supplement to the conventional PCR
Files in This Item:
T200801404.pdf Download
DOI
10.3343/kjlm.2008.28.5.386
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
Yonsei Authors
Park, Youn Hee(박윤희) ORCID logo https://orcid.org/0000-0001-8458-1495
Song, Jae Woo(송재우) ORCID logo https://orcid.org/0000-0002-1877-5731
Lee, Kyung A(이경아) ORCID logo https://orcid.org/0000-0001-5320-6705
Choi, Jong Rak(최종락) ORCID logo https://orcid.org/0000-0002-0608-2989
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/107716
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